ClinVar Miner

List of variants in gene OPA1 reported by Ambry Genetics

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala) rs145565705 0.00103
NM_130837.3(OPA1):c.254G>A (p.Arg85His) rs35630194 0.00068
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_130837.3(OPA1):c.2441-4dup rs761286590 0.00019
NM_130837.3(OPA1):c.844-4G>A rs377043223 0.00005
NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser) rs200428940 0.00004
NM_130837.3(OPA1):c.1608+5G>A rs376673283 0.00001
NM_130837.3(OPA1):c.2429G>A (p.Arg810His) rs762258708 0.00001
NM_130837.3(OPA1):c.2647G>A (p.Val883Ile) rs773078058 0.00001
NM_130837.3(OPA1):c.1499G>C (p.Arg500Pro) rs80356529
NM_130837.3(OPA1):c.1519G>A (p.Val507Ile)
NM_130837.3(OPA1):c.170C>T (p.Thr57Ile)
NM_130837.3(OPA1):c.1737G>C (p.Gln579His) rs538099724
NM_130837.3(OPA1):c.2019A>C (p.Glu673Asp)
NM_130837.3(OPA1):c.2071A>G (p.Ile691Val)
NM_130837.3(OPA1):c.212G>C (p.Arg71Pro)
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del) rs755591067
NM_130837.3(OPA1):c.2273C>T (p.Ala758Val)
NM_130837.3(OPA1):c.2391T>G (p.Asp797Glu)
NM_130837.3(OPA1):c.2661+1G>A rs794727392
NM_130837.3(OPA1):c.32+24C>G
NM_130837.3(OPA1):c.37G>A (p.Val13Ile)
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804

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